Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease.
Material cross-reacting with antibodies to acid lipase was demonstrated in fibroblasts of three patients with Wolman disease and three with cholesterol ester storage disease. Quantitation of the immunologically cross-reacting material (CRM) by a single radial immunodiffusion method revealed normal levels in both mutant cell types. CRM specific activity toward triolein and cholesteryl oleate was reduced about 200-fold in the Wolman disease fibroblasts and 50- to 100-fold in the cholesterol ester storage disease cells when compared to normal.
D002478:Cells, Cultured; D002788:Cholesterol Esters / Q000378:metabolism; D003429:Cross Reactions; D005347:Fibroblasts / Q000201:enzymology* / Q000276:immunology; D006801:Humans; D005779:Immunodiffusion; D007122:Immunoelectrophoresis; D008049:Lipase / Q000172:deficiency / Q000276:immunology*; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology* / Q000276:immunology; D008247:Lysosomes / Q000201:enzymology; D012867:Skin; D013379:Substrate Specificity; D014304:Triolein / Q000378:metabolism
D002788:Cholesterol Esters; D014304:Triolein; D008049:Lipase